1/26. biliary atresia with hyperandrogenic amenorrhea: case report.The etiology of hyperandrogenic amenorrhea in a 16 year-old girl after a successful Kasai operation for biliary atresia was unclear. Delayed puberty and menarche were observed. There was no luteinizing hormone-follicular stimulating hormone surge. A provocative luteinizing hormone-releasing hormone test showed a normal response. Peripheral aromatization of androgens appeared to function normally. However, plasma levels of sex hormone-binding globulin and total testosterone were high and the free testosterone level was normal. The anovulatory menstrual cycle continued after menarche at 18 years of age. A combination of estrogen and progesterone therapy was effective. The etiology might be associated with delayed metabolic clearance of testosterone accompanied by the compensatory cirrhosis and portosystemic shunt.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
2/26. A case of primary amenorrhea, diabetes and anosmia.This case details a patient with primary amenorrhea with an unusual cause. She presented at age 16 with short stature, minimal sexual development and no prior menses. Her history was significant for poorly controlled type 1 diabetes. She had been evaluated previously for growth hormone deficiency, and had received a short course of growth hormone therapy. Of greatest significance was the fact that she had also had a decreased sense of smell since her youth. Although a previous computerized tomography scan had been reported as normal, follow-up magnetic resonance imaging demonstrated the absence of olfactory bulbs. smell testing confirmed the absence of smell and testing of gonadotropin releasing hormone demonstrated an inadequate response. All of these features suggested kallmann syndrome. This syndrome commonly presents with delayed onset of puberty and decreased or absent sense of smell. There are also many associated features, and the disease is remarkable for its great genotypic and phenotypic variability. Current understanding of its pathogenesis, the commonly associated features of kallmann syndrome and the impact of diabetes on growth and sexual development are reviewed.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
3/26. biliary atresia with hyperandrogenic amenorrhea.The etiology of hyperandrogenic amenorrhea in a patient with biliary atresia successfully treated by a Kasai operation was unclear. Delayed puberty and menarche were evident at 16 years of age. Investigations showed no luteinizing hormone (LH)-follicle-stimulating hormone surge. A LH-releasing hormone provocative test showed a normal response. Peripheral aromatization of androgens appeared to function normally. Free testosterone (T) was normal, however, plasma levels of sex-hormone-binding globulin and total T were high. After menarche at 18 years of age, anovulatory menstrual cycles continued. A combination of estrogen and progesterone therapy was effective. A possible explanation may be that metabolic clearance of T is reduced in the presence of liver cirrhosis and a portosystemic shunt.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
4/26. A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty.We report a 28-year-old-female who presented with primary amenorrhoea, absence of puberty, obesity and normal stature. The subject was clearly short as a child, with a height more than 2 SD below normal until the age of 15 years. The pubertal growth spurt failed to develop. She continued growing at a prepubertal rate until growth ceased at the age of 20 years, reaching her final adult height of 157 cm (SDS -0.86) without hormonal treatment. A combined pituitary hormone stimulation test of anterior pituitary function showed deficiencies of GH, LH and FSH, and low normal serum levels of TSH and PRL. magnetic resonance imaging revealed a hypoplastic pituitary with markedly reduced pituitary height. In addition, a whole body dual energy X-ray absorptiometry scan showed high levels of body fat (54%). Combined pituitary hormone deficiencies with a hypoplastic pituitary suggested the diagnosis of a Prophet of Pit-1 (PROP1) gene mutation. Normal stature in this case, however, confounded this diagnosis. Sequencing of PROP1 revealed homozygosity for a single base-pair substitution (C to T), resulting in the replacement of an Arg by a Cys at codon 120 (R120C) in the third helix of the homeodomain of the Prop-1 protein. To our knowledge, this is the first report of a patient with a mutation in the PROP1 gene that attained normal height without hormonal treatment, indicating a new variability in the PROP1 phenotype, with important implications for the diagnosis of these patients. We suggest that this can be explained by (i) the presence of low levels of GH in the circulation during childhood and adolescence; (ii) the lack of circulating oestrogen delaying epiphyseal fusion, resulting in growth beyond the period of normal growth; and (iii) fusion of the epiphyseal plates, possibly as a result of circulating oestrogens originating from peripheral conversion of androgens by adipose tissue.- - - - - - - - - - ranking = 5keywords = puberty (Clic here for more details about this article) |
5/26. Endocrine disorder as the only sign of chronic "non-hypertensive" hydrocephalus.Three cases of "non-hypertensive" chronic hydrocephalus, 2 of which associated with early puberty and 1 with primary amenorrhea, are reported. Hormonal secretion deficiencies were confirmed by laboratory investigations. Only 1 of the 3 patients was surgically treated with a shunting device.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
6/26. Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies.Inactivating mutations of the FSH receptor have been described in rare cases of premature ovarian failure. Only one mutation was associated with a complete phenotype, including delayed puberty, primary amenorrhea, and small ovaries. We describe here a new patient presenting a similar complete phenotype of premature ovarian failure, with high plasma FSH levels associated with very low estrogen and inhibin B levels. No biological response to high doses of recombinant FSH was detected. A novel homozygous Pro(519)Thr mutation was found in this patient. This mutation is located in the second extracellular loop of the FSH receptor, within a motif highly conserved in gonadotropin and TSH receptors. The mutation totally impairs adenylate cyclase stimulation in vitro. FSH binding experiments and confocal microscopy showed that this mutation alters the cell surface targeting of the mutated receptor, which remains trapped intracellularly. Histological studies of the ovaries of the patient showed an increase in the density of small follicles compared with age-matched normal women. A complete block in follicular maturation after the primary stage was also observed. Immunocytochemical studies allowed detection of the expression of c-Kit and proliferation cellular nuclear antigen, whereas no apoptosis was shown by the 3'-end-labeling method. This observation supports the concept that in humans FSH seems mandatory for the initiation of follicular growth only after the primary stage. In our patient complete FSH resistance yields infertility, which is remarkably associated with the persistence of a high number of small follicles.- - - - - - - - - - ranking = 5keywords = puberty (Clic here for more details about this article) |
7/26. A case of gonadal dysgenesis, breast development, Graves' disease, and low bone mass.OBJECTIVE: To describe a case of XY gonadal dysgenesis with Tanner stage 4 breast development in the absence of a hormone-producing gonadal neoplasm and with Graves' disease and low bone mass. methods: The clinical features, laboratory results, and cytogenetic findings in the patient are presented, and the potential mechanisms of breast development are discussed. A medline search was performed, and related articles in the English-language literature published between 1955 and 2001 were reviewed. RESULTS: A 23-year-old African American woman was referred to the University of Louisville Hospital for evaluation of hyperthyroidism. About 4 months before this referral, hyperthyroidism was diagnosed, and treatment with methimazole was initiated. She continued to have thyrotoxicosis. Additionally, systemic review disclosed a history of primary amenorrhea. physical examination revealed a tall phenotypic female patient with Tanner stage 4 breast development. Pelvic examination showed normal findings except for sparse pubic hair. Laboratory evaluation confirmed the diagnosis of Graves' disease as well as primary gonadal failure. Pelvic ultrasonography revealed a small uterus and bilateral adnexal masses (0.9 by 0.6 cm). On chromosomal analysis, a 46,XY karyotype was found. Further analysis of Y-dna by polymerase chain reaction confirmed the presence of an intact y chromosome, and no microdeletions were identified. Dual-energy x-ray absorptiometry demonstrated a Z-score of -4.7 and -4.2 at the lumbar spine and right hip, respectively. Graves' disease was successfully treated with (131)I. laparoscopy was performed to resect streak gonads. On histologic examination, no typical ovarian, testicular, or neoplastic tissue was identified. The breast development in this patient remains unexplained. CONCLUSION: To the best of our knowledge, this is the first case report of a tall XY female patient with breast development in the absence of a hormone-producing gonadal neoplasm and without clearly identifiable gonads. breast development was most likely related to estrogens, possibly produced by either streak gonads at the time of puberty or peripheral conversion of androgens, or to increased sensitivity of breast tissue to estrogens. Graves' disease is likely coincidental and could contribute to bone loss in such subjects.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
8/26. A novel 7301-bp deletion in mitochondrial dna in a patient with kearns-sayre syndrome, diabetes mellitus, and primary amenorrhoea.We report a 27-year-old woman with a form of mitochondrial myopathy including chronic progressive external opthalmoplegia, retinal pigmentary dystrophy, cerebellar ataxia, and cardiac conduction block (kearns-sayre syndrome). At age 13 years a cardiac pacemaker was implanted. She also had sensineural hearing loss, delayed puberty, and primary amenorrhoea. She was weelchair-bound since the age of 20 years. At age 27, insulin-dependent diabetes mellitus and osteoporosis were diagnosed. insulin treatment was started and associated endocrinopathies were investigated. dna analysis identified a novel 7301-bp deletion in mitochondrial dna, ranging from position 6530 to 13 831 corroborating the diagnosis of kearns-sayre syndrome.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
9/26. Convexity meningioma associated with empty sella presenting as primary amenorrhea.A case of a 30-year-old female seen for a convexity meningioma is presented. history and investigations revealed an empty sella turcica associated with primary amenorrhea. The removal of the convexity meningioma resulted in the disappearance of the amenorrhea and in the rise of plasma gonadotropins. The importance of the consideration of intracranial causes in patients who have a delayed puberty or the absence of a menstrual history is briefly emphasized in the light of literature.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
10/26. Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life.Congenital adrenal hyperplasia (CAH) is caused by a defect in the biosynthesis of cortisol that results in maximal activity of the hypothalamic-pituitary adrenal axis with hyperplasia of the adrenals and hyperandrogenism due to the accumulation of androgen precursors. In the salt-wasting subtype of the disorder, which accounts for appr. 75 % of patients with classical CAH, patients are unable to synthesise sufficient amounts of aldosterone and are prone to life-threatening salt-losing crises, whereas the simple virilising form is predominantly characterized by clitoris hypertrophy and posterior labial fusion. In addition, a non-classical variant can be discerned which in most cases is diagnosed at the time of puberty or early adolescence when hirsutism and menstrual irregularities may occur. The vast majority of CAH patients have 21-hydroxylase deficiency (90 - 95 %). Less common forms, such as 11beta-hydroxylase deficiency, will not be discussed in this review. Unfortunately, a considerable number of CAH patients is lost to regular and competent follow-up once they move out of paediatric care. This is most probably the result of insufficient co-operation between paediatric and adult endocrinologists at the time of transition from adolescence to adulthood. Furthermore, there is a lack of clinical guidance regarding psychosexual development in these patients. In this overview we will focus on special aspects of CAH treatment in adolescence and adulthood, and report on our 10-year experience with a transfer system for endocrine patients from paediatric to internal medical care, known as the "Kieler Modell". For practical purposes, we here provide charts for follow-up of CAH patients that can be adapted for use in any endocrine outpatient clinic.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
| | Next -> |